Variant report

Variant	rs10956930
Chromosome Location	chr8:95919786-95919787
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr8:95919757-95920081	GM12891	blood:	n/a	chr8:95919896-95919909 chr8:95919898-95919907
2	MEF2A	chr8:95919763-95920294	SK-N-SH	brain:	n/a	n/a
3	SPI1	chr8:95919773-95919993	GM12878	blood:	n/a	chr8:95919896-95919909 chr8:95919898-95919907
4	SPI1	chr8:95919742-95920030	GM12891	blood:	n/a	chr8:95919896-95919909 chr8:95919898-95919907

No.	Distal block	Cell Line	Cell type
1	chr8:95907089..95909246-chr8:95918351..95920995,2	MCF-7	breast:
2	chr8:95907392..95910679-chr8:95917896..95921327,5	K562	blood:
3	chr8:95911771..95913789-chr8:95918971..95920628,2	MCF-7	breast:
4	chr8:95919394..95921112-chr8:95924687..95926221,2	K562	blood:

Variant related genes	Relation type
ENSG00000238791	TF binding region
ENSG00000156170	Chromatin interaction
ENSG00000175305	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10086284	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10098778	1.00[CHB][hapmap]
rs10099941	0.93[CHB][hapmap]
rs10104909	1.00[CHB][hapmap]
rs10112447	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1011795	0.84[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs1011796	0.84[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10441538	0.84[CHB][hapmap]
rs10956928	0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs10956929	0.84[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10956931	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1129152	0.86[CHB][hapmap]
rs11784717	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs11996455	0.86[CHB][hapmap]
rs12541035	0.96[ASN][1000 genomes]
rs12545596	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12548367	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548999	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549003	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12550765	0.88[CEU][hapmap]
rs12679044	0.88[JPT][hapmap]
rs13271375	0.86[CHB][hapmap]
rs13282419	0.83[AMR][1000 genomes]
rs1453377	1.00[CHB][hapmap]
rs1453379	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs16893776	1.00[CHB][hapmap]
rs1971212	0.83[AFR][1000 genomes]
rs2013597	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2013995	0.83[AFR][1000 genomes]
rs2123647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2253173	0.83[YRI][hapmap]
rs2278891	0.84[CEU][hapmap];0.87[JPT][hapmap]
rs2340583	0.86[ASN][1000 genomes]
rs2459964	0.83[AFR][1000 genomes]
rs2459965	0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs2467672	0.88[AFR][1000 genomes]
rs2467674	0.84[AFR][1000 genomes]
rs2924477	0.92[ASN][1000 genomes]
rs2924478	0.81[ASN][1000 genomes]
rs2945554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2945563	0.90[ASN][1000 genomes]
rs2956210	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs2956216	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3019175	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3019182	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34293080	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3802193	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4570121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4734291	0.87[JPT][hapmap]
rs4734293	0.81[EUR][1000 genomes]
rs4734295	0.81[CHB][hapmap]
rs4735328	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4735329	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4735330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735334	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs4735336	1.00[CHB][hapmap]
rs4735337	1.00[CHB][hapmap]
rs4735339	1.00[CHB][hapmap]
rs477653	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs535322	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs550418	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs550564	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs551270	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs61537129	0.92[ASN][1000 genomes]
rs6471497	0.88[CEU][hapmap]
rs6471499	0.84[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs6471500	0.84[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6471501	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471503	0.86[CHB][hapmap]
rs6471504	0.86[CHB][hapmap]
rs683832	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6982393	1.00[CHB][hapmap]
rs6983000	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6987256	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6987400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991067	0.86[CHB][hapmap]
rs7001535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004862	0.86[CHB][hapmap]
rs7005317	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7015841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820818	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827478	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7845219	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs896849	0.82[YRI][hapmap]
rs896850	0.81[EUR][1000 genomes]
rs896851	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs896854	0.85[CHB][hapmap]
rs9643350	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643351	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643352	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643353	0.84[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv891203	chr8:95883232-95948202	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv3330012	chr8:95917076-95920874	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95909400-95920800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:95909400-95932600	Weak transcription	Esophagus	oesophagus
3	chr8:95909400-95939000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr8:95909400-95941000	Weak transcription	Ovary	ovary
5	chr8:95909400-95941200	Weak transcription	Fetal Stomach	stomach
6	chr8:95909600-95920600	Weak transcription	Brain Angular Gyrus	brain
7	chr8:95909600-95937000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:95909600-95938400	Weak transcription	Primary T cells from cord blood	blood
9	chr8:95909600-95941800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr8:95909800-95930400	Weak transcription	Fetal Brain Female	brain
11	chr8:95909800-95940600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:95910000-95940200	Weak transcription	Thymus	Thymus
13	chr8:95910800-95931600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:95910800-95940200	Weak transcription	Hela-S3	cervix
15	chr8:95913600-95930200	Weak transcription	Brain Germinal Matrix	brain
16	chr8:95913600-95932600	Weak transcription	Fetal Brain Male	brain
17	chr8:95917200-95920600	Enhancers	Fetal Intestine Small	intestine
18	chr8:95917400-95920400	Enhancers	Fetal Intestine Large	intestine
19	chr8:95917400-95921400	Weak transcription	K562	blood
20	chr8:95917800-95919800	Strong transcription	Dnd41	blood
21	chr8:95917800-95920200	Enhancers	Stomach Mucosa	stomach
22	chr8:95918000-95919800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:95918000-95925400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:95918000-95940200	Weak transcription	Brain Anterior Caudate	brain
25	chr8:95918200-95919800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:95918600-95933400	Weak transcription	Right Ventricle	heart
27	chr8:95918600-95947400	Weak transcription	Small Intestine	intestine
28	chr8:95918800-95919800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr8:95918800-95931800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr8:95918800-95935200	Weak transcription	Primary B cells from cord blood	blood
31	chr8:95919000-95920400	Weak transcription	Gastric	stomach
32	chr8:95919000-95941200	Weak transcription	Left Ventricle	heart
33	chr8:95919200-95920000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:95919200-95920600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:95919200-95921000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:95919200-95928000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:95919200-95935200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr8:95919200-95948600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:95919400-95920400	Enhancers	Osteobl	bone
40	chr8:95919400-95921200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:95919400-95928000	Weak transcription	Fetal Thymus	thymus
42	chr8:95919400-95928000	Weak transcription	HepG2	liver
43	chr8:95919600-95920200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:95919600-95920200	Enhancers	HSMM	muscle
45	chr8:95919600-95920200	Enhancers	HSMMtube	muscle
46	chr8:95919600-95920200	Enhancers	NHDF-Ad	bronchial

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